In liver endoplasmic reticulum the intralumenal glucose-6-phosphatase activity requires the operation of a glucose 6-phosphate transporter (G6PT1). Mutations in the gene encoding G6PT1 cause glycogen storage disease type 1b, which is characterized by a loss of glucose-6-phosphatase activity and impaired glucose homoeostasis. We describe a novel glucose 6-phosphate (G6P) transport activity in mi...

Glycogen storage disease, type II (GSDII; Pompe disease; acid maltase deficiency) is an autosomal recessive disease caused by mutations of the GAA gene that lead to deficient acid alpha-glucosidase enzyme activity and accumulation of lysosomal glycogen. Although measurement of acid alpha-glucosidase enzyme activity in fibroblasts remains the gold standard for the diagnosis of GSDII, analysis of...

Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase gene, which leads to lysosomal glycogen accumulation and enlargement of the lysosomes mainly in cardiac and muscle tissues, resulting in fatal hypertrophic cardiomyopathy and respiratory failure in the most severely affected patients. Enzyme replacement th...

Introduction Glycogen storage disease type II (Pompe disease or acid maltase deficiency) is an autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. Accumulation of glycogen in the lysosomes damages muscle cells throughout the body. In response to that damage, we hypothesized that cytokines (a family of proteins that mediate innate and ada...

Introduction Glycogen storage disease, glycogenosis type II (GSDII), or Pompe disease (OMIM 23230), is an autosomal recessive lysosomal storage disorder that results from a deficiency in the acid alpha glucosidase (GAA) enzyme. The disease is characterized by progressive accumulation of lysosomal glycogen in various tissues, primarily in cardiac and skeletal muscles. The histopathological hallm...

Introduction Glycogen storage disease type II (Pompe disease) is a rare, progressive muscle disorder with a wide range of phenotypic presentations. It is caused by an inherited deficiency of acid a-glucosidase (GAA), which leads to lysosomal glycogen accumulation in various tissues, most notably cardiac, skeletal, and smooth muscle. The gradual pathologic storage of GAA in muscle cells causes i...